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Abstract Details

Missed opportunity? Neurological Catastrophe in a Case of Familial Teratoma
Autoimmune Neurology
P3 - Poster Session 3 (11:45 AM-12:45 PM)
8-011
A case of anti-NMDAR encephalitis in a young woman with ovarian teratoma whose mother also had teratoma in her youth.
Ovarian teratomas are linked to anti N-methyl D-aspartate receptor encephalitis since 2005. They are a type of germ cell tumors, found primarily in young women between 10 to 30 years. Incidence is about 1.2–14.2 cases per 100,000 people per year. However, familial ovarian teratomas are extremely rare with no figures available on incidence. Hence evidence-based guidance on the most suitable imaging modality, interval/duration of follow up and the criteria for screening other family members are lacking. Recently a germline missense mutation, C262T, in exon 1 of the bone morphogenetic protein 15 (BMP15) gene on X chromosome was found to be a pathogenic variant for ovarian immature teratoma, providing a potential biomarker for genetic screening.
A 23-year-old woman, marijuana user, was admitted with 6 months history of episodes of labile behavior and inability to function at work, to evaluate toxic encephalopathy. Clinically she was nonverbal, not following commands and non-focal.  EEG showed non-convulsive status epilepticus. Started on levetiracetam and later lacosamide. CSF studies revealed high titers of anti-NMDA antibodies and no signs of infection. Imaging revealed an ovarian teratoma and was removed. On retaking history, her mother was found to have had ovarian teratoma. In the interim, she was given 2 courses of pulse steroids, IV Immunoglobulin and then Rituximab. She developed resistant autonomic instability unresponsive to high dose opiates, benzodiazepines, clonidine and gabapentin. Given a trial of 3 cycles of Bortezomib after review of multiple case reports suggestive of better outcomes. She was gradually weaned off the ventilator and Lacosamide. 

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Given the seriousness of this paraneoplastic manifestation, further research and screening recommendations are needed, that may save the family members including successive generations, for patients with familial ovarian teratoma.
Authors/Disclosures
Aparna Kalyani Pariyadath, MBBS (SUNY Downstate Health Sciences University)
PRESENTER
Dr. Pariyadath has nothing to disclose.
James Soh, MD, PhD (Kings County Hospital Center) Dr. Soh has nothing to disclose.
Akhil Narayanan Palat, MBBS Mr. Palat has nothing to disclose.